Details

Autor(en) / Beteiligte

• Nukina, S
• Nishimura, Y
• Kinugasa, A
• Sawada, T
• Hamaoka, K
• Inazawa, J
• Tsuda, S
• Abe, T

Titel

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

Ist Teil von

• Jinrui idengaku zasshi. Japanese journal of human genetics, 1989-09, Vol.34 (3), p.235-241

Ort / Verlag

Japan

Erscheinungsjahr

1989

Quelle

MEDLINE

Beschreibungen/Notizen

• We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,-14,-22, +der(14)(14pter---14q32.32::22q11.21---22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1.